Indirect gene tracking (linkage)

Scientists use the fact that there are special segments of DNA that are located very close to the gene on the same chromosome. These segments nearly always travel with the gene when it is passed from parent to child. These segments of DNA, polymorphic markers warn that either the working copy of the gene, or the faulty copy containing the mutation, is nearby. The closer the markers are linked to the gene, the more likely marker is travelling with either the working copy or the faulty gene copy. The markers that are linked to the faulty or working gene copies are special to each family, so this method of genetic testing can only be done within families .

Testing the DNA

Direct gene testing

Once a gene has been located precisely on a chromosome, the next steps are determining the normal chemical structure of the gene and the changes that alter the coded message. Where the change(s) in the gene are known, the gene can be examined directly for their presence or absence. In this case, the test is very accurate.

Genetic testing

Genetic testing is done for a particular condition where an individual is suspected of being at increased risk due to their family history or the result of a genetic screening test.